(Q51796683)

12 April 2018

title

Cardiac malformations and midline skeletal defects in mice lacking filamin A. (English)

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12 April 2018

Shoumo Bhattacharya

6

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Ian J. Jackson

object named as

Ian J Jackson

7

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Sally H Cross

object named as

Sally H Cross

8

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author name string

Alan W Hart

1

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12 April 2018

Joanne E Morgan

2

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12 April 2018

Jürgen Schneider

3

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12 April 2018

Katrine West

4

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12 April 2018

Lisa McKie

5

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12 April 2018

publication date

6 July 2006

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12 April 2018

published in

Human Molecular Genetics

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12 April 2018

volume

15

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12 April 2018

issue

16

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12 April 2018

page(s)

2457-2467

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12 April 2018

Human endothelial actin-binding protein (ABP-280, nonmuscle filamin): a molecular leaf spring

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1 reference

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Filamins as integrators of cell mechanics and signalling

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Actin-binding protein requirement for cortical stability and efficient locomotion

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The co-workers of actin filaments: from cell structures to signals

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Filamin A: phenotypic diversity

21 January 2018

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Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

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Periventricular heterotopia and epilepsy.

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Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene.

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Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia.

21 January 2018

1 reference

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Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

21 January 2018

1 reference

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Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.

21 January 2018

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A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts

21 January 2018

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A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome

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Novel ENU-induced eye mutations in the mouse: models for human eye disease

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Haploinsufficiency for Phox2b in mice causes dilated pupils and atrophy of the ciliary ganglion: mechanistic insights into human congenital central hypoventilation syndrome.

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Wa5 is a novel ENU-induced antimorphic allele of the epidermal growth factor receptor

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Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy

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Genotype-phenotype correlation of mouse pde6b mutations

21 January 2018

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Connecting mammalian genome with phenome by ENU mouse mutagenesis: gene combinations specifying the immune system.

21 January 2018

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A gene-driven ENU-based approach to generating an allelic series in any gene

21 January 2018

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Neural crest and cardiovascular development: a 20-year perspective

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Tbx20 dose-dependently regulates transcription factor networks required for mouse heart and motoneuron development

21 January 2018

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Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: evidence for allelism with OPD1.

21 January 2018

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AN UNDIAGNOSED BONE DYSPLASIA

21 January 2018

1 reference

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Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact

21 January 2018

1 reference

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FOXC1 transcriptional regulatory activity is impaired by PBX1 in a filamin A-mediated manner

21 January 2018

1 reference

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A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye

21 January 2018

1 reference

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Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development

21 January 2018

1 reference

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Identification of filamin as a novel ligand for caveolin-1: evidence for the organization of caveolin-1-associated membrane domains by the actin cytoskeleton

21 January 2018

1 reference

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Identification of cardiac malformations in mice lacking Ptdsr using a novel high-throughput magnetic resonance imaging technique

21 January 2018

1 reference

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Detection of messenger RNA by in situ hybridization to tissue sections and whole mounts

21 January 2018

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Optical projection tomography as a tool for 3D microscopy and gene expression studies

21 January 2018

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Periventricular Heterotopia: An X-Linked Dominant Epilepsy Locus Causing Aberrant Cerebral Cortical Development

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDL168

1 reference

12 April 2018

1 reference

12 April 2018